PRDM16

PR/SET domain 16

Summary

The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

Known Variants1,133 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2472818	1:2,985,412	G/A	—	benign
rs868744430	1:2,985,545	G/C	—	likely benign
rs774793829	1:2,985,807	T/C	—	likely benign
rs180925565	1:2,985,810	C/A	—	likely benign
rs2100451649	1:2,985,828	G/A	—	uncertain significance
rs370334235	1:2,985,844	G/A	—	likely benign
rs770141414	1:2,985,851	C/T	—	likely benign
rs776122259	1:2,985,853	A/G	—	likely benign
rs7413494	1:2,985,885	C/G	—	benign
rs4648452	1:2,996,522	C/G	—	—
rs142957876	1:3,000,791	C/A	regulatory region variant	—
rs2742677	1:3,002,610	C/T	intron variant	—
rs2981868	1:3,026,260	T/G	—	—
rs2742670	1:3,045,365	A/C	—	—
rs12024620	1:3,049,362	C/T	downstream gene variant	—
rs12021948	1:3,049,381	G/C	downstream gene variant	—
rs10909883	1:3,050,497	A/T	—	—
rs61759161	1:3,065,568	C/T	intron variant	—
rs2651899	1:3,083,712	T/A	—	—
rs34030409	1:3,089,339	C/G	intron variant	—
rs78580116	1:3,090,293	G/A	intron variant	—
rs61759167	1:3,091,587	C/T	regulatory region variant	—
rs61759178	1:3,098,489	T/A	—	—
rs79366678	1:3,098,571	A/T	—	—
rs74753072	1:3,098,846	G/A	intron variant	—
rs1393064	1:3,099,138	G/C	intron variant	—
rs186011855	1:3,102,374	C/T	—	likely benign
rs74050163	1:3,102,520	C/A	—	likely benign
rs116565575	1:3,102,652	C/T	—	likely benign
rs190568539	1:3,102,669	C/T	—	likely benign
rs538043024	1:3,102,670	G/A	—	likely benign
rs9662053	1:3,102,674	C/T	—	benign
rs368409902	1:3,102,675	G/A	—	conflicting classifications of pathogenicity
rs1373869540	1:3,102,690	T/C	—	conflicting classifications of pathogenicity
rs540560495	1:3,102,693	C/T	—	likely benign
rs201559520	1:3,102,694	G/A	—	uncertain significance
rs755458264	1:3,102,699	C/T	—	likely benign
rs183153140	1:3,102,700	G/T	—	uncertain significance
rs2522908265	1:3,102,711	T/C	—	likely benign
rs770517714	1:3,102,722	C/A	—	uncertain significance
rs776417681	1:3,102,723	C/T	—	likely benign
rs759261262	1:3,102,726	C/T	—	likely benign
rs769704263	1:3,102,727	C/T	—	uncertain significance
rs375422885	1:3,102,728	G/A	—	uncertain significance
rs1569798407	1:3,102,742	A/G	—	uncertain significance
rs750535149	1:3,102,744	C/G	—	uncertain significance
rs754219394	1:3,102,750	C/T	—	likely benign
rs187194973	1:3,102,751	G/A	—	likely benign
rs779535977	1:3,102,752	C/T	—	uncertain significance
rs374918897	1:3,102,753	G/A	—	likely benign
rs777374351	1:3,102,754	G/A	—	uncertain significance
rs746503102	1:3,102,758	A/C	—	uncertain significance
rs770557050	1:3,102,759	C/T	—	likely benign
rs369539275	1:3,102,760	G/A	—	uncertain significance
rs372823594	1:3,102,765	C/T	—	likely benign
rs775285788	1:3,102,766	G/A	—	uncertain significance
rs373546344	1:3,102,783	G/A	—	likely benign
rs1644265658	1:3,102,785	C/A	—	uncertain significance
rs746262080	1:3,102,792	C/T	—	likely benign
rs199968728	1:3,102,793	G/A	—	likely benign
rs754043874	1:3,102,797	G/A	—	uncertain significance
rs765652014	1:3,102,803	C/T	—	uncertain significance
rs1266307612	1:3,102,804	G/A	—	likely benign
rs369648897	1:3,102,822	C/T	—	likely benign
rs972134115	1:3,102,823	G/A	—	uncertain significance
rs1644266195	1:3,102,827	A/G	—	uncertain significance
rs2522908994	1:3,102,835	C/T	—	uncertain significance
rs2522908997	1:3,102,836	C/T	—	uncertain significance
rs756786198	1:3,102,843	G/A	—	likely benign
rs374012976	1:3,102,848	C/T	—	uncertain significance
rs377760808	1:3,102,849	G/A	—	likely benign
rs1060501005	1:3,102,851	C/T	—	uncertain significance
rs199614349	1:3,102,852	G/A	—	likely benign
rs930898977	1:3,102,855	C/T	—	likely benign
rs779756897	1:3,102,856	G/A	—	uncertain significance
rs1208537671	1:3,102,866	T/G	—	uncertain significance
rs2100798027	1:3,102,868	T/G	—	uncertain significance
rs2100798029	1:3,102,870	C/T	—	likely benign
rs1557514375	1:3,102,876	T/G	—	likely benign
rs374449916	1:3,102,880	G/C	—	uncertain significance
rs143467979	1:3,102,888	G/T	—	likely benign
rs765564758	1:3,102,897	A/G	—	likely benign
rs370290776	1:3,102,903	C/T	—	likely benign
rs1366555985	1:3,102,910	C/T	—	conflicting classifications of pathogenicity
rs945163627	1:3,102,915	G/T	—	uncertain significance
rs1375652103	1:3,102,918	C/T	—	likely benign
rs1569799111	1:3,102,921	C/A	—	likely benign
rs1447130590	1:3,102,929	G/A	—	uncertain significance
rs1644268150	1:3,102,935	G/T	—	uncertain significance
rs752047886	1:3,102,939	G/A	—	likely benign
rs1312935714	1:3,102,957	G/A	—	likely benign
rs1187476584	1:3,102,961	A/C	—	uncertain significance
rs766897178	1:3,102,967	G/A	—	uncertain significance
rs749938760	1:3,102,969	C/T	—	likely benign
rs755705452	1:3,102,983	G/A	—	uncertain significance
rs2100798234	1:3,102,985	C/T	—	uncertain significance
rs779738395	1:3,102,990	C/T	—	likely benign
rs749076034	1:3,102,991	G/A	—	uncertain significance
rs35186069	1:3,102,993	G/A	—	likely benign
rs1057524218	1:3,102,998	T/C	—	uncertain significance

Showing 100 of 1,133 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.